Mashima Y, Hiida Y, Saga M, Oguchi Y, Kudoh J, Shimizu N
Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
Am J Ophthalmol. 1995 Feb;119(2):245-6. doi: 10.1016/s0002-9394(14)73888-7.
PURPOSE/METHODS: The most common pathogenic mitochondrial mutation at nucleotide 11778 in Leber's hereditary optic neuropathy is usually detected by the loss of an SfaNI restriction site. To evaluate a false-positive diagnostic error in this molecular genetic assay, we investigated SfaNI polymorphism in 120 patients with bilateral optic atrophy.
RESULTS/CONCLUSIONS: The ratio of false-positive to true-positive results was 1:36. Mitochondrial DNA polymorphism at nucleotide 11779 reflects a false-positive genetic error.
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